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991.
992.
Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications 下载免费PDF全文
Nicholas J. Pojman Tony Thieu Polina Bukshpun Mari L.J. Wakahiro Elysa J. Marco Jeffrey I. Berman John E. Spiro Wendy K. Chung Randy L. Buckner Timothy P.L. Roberts Srikantan S. Nagarajan Elliott H. Sherr Pratik Mukherjee 《Human brain mapping》2016,37(8):2833-2848
Copy number variants at the 16p11.2 chromosomal locus are associated with several neuropsychiatric disorders, including autism, schizophrenia, bipolar disorder, attention‐deficit hyperactivity disorder, and speech and language disorders. A gene dosage dependence has been suggested, with 16p11.2 deletion carriers demonstrating higher body mass index and head circumference, and 16p11.2 duplication carriers demonstrating lower body mass index and head circumference. Here, we use diffusion tensor imaging to elucidate this reciprocal relationship in white matter organization, showing widespread increases of fractional anisotropy throughout the supratentorial white matter in pediatric deletion carriers and, in contrast, extensive decreases of white matter fractional anisotropy in pediatric and adult duplication carriers. We find associations of these white matter alterations with cognitive and behavioral impairments. We further demonstrate the value of imaging metrics for characterizing the copy number variant phenotype by employing linear discriminant analysis to predict the gene dosage status of the study subjects. These results show an effect of 16p11.2 gene dosage on white matter microstructure, and further suggest that opposite changes in diffusion tensor imaging metrics can lead to similar cognitive and behavioral deficits. Given the large effect sizes found in this study, our results support the view that specific genetic variations are more strongly associated with specific brain alterations than are shared neuropsychiatric diagnoses. Hum Brain Mapp 37:2833–2848, 2016. © 2016 Wiley Periodicals, Inc. 相似文献
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Objective To investigate cerebral structural signatures of the bulbar- and spinal-onset amyotrophic lateral sclerosis (ALS) using voxel-based morphometry on magnetic resonance imaging. Methods The MR structural images of the brain were obtained from 65 ALS patients (15 bulbar-onset, 50 spinal-onset) and 65 normal controls (NC) on a 3.0T MRI system. Gray matter (GM) volume changes were investigated by voxel-based morphometry, and the distribution of the brain regions with volume changes was compared between ALS and normal controls, as well as between bulbar-onset and spinal-onset ALS based on Neuromorphometrics atlas. Results On voxel-level the decreased volume of brain regions in ALS patients was located in the right precentral gyrus (rPrcGy) and right middle frontal gyrus compared with that in NC. The bulbar-onset ALS presented extra-motor cortex atrophy (fronto-temporal pattern), including left medial orbital gyrus, left inferior temporal gyrus and right middle temporal gyrus; the spinal-onset ALS suffered from motor cortex atrophy (rPrcGy dominance) and extra-motor cortex atrophy (fronto-temporal and extra-fronto-temporal pattern) compared with NC. The spinal-onset ALS featured by GM volume loss of left postcentral gyrus and bulbar-onset ALS featured by GM volume loss of left middle temporal gyrus compared with each other. Conclusions The asymmetric GM atrophy of the motor cortex and extra-motor cortex represents the common MRI structural signatures of spinal-onset ALS, and sole extra-motor cortex atrophy represents the structural signatures of bulbar-onset ALS. The present study also demonstrated that the pattern of GM damage is likely to distribute wider in spinal-onset ALS than in bulbar-onset ALS. 相似文献
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Hikaru Takeuchi Yasuyuki Taki Rui Nouchi Ryoichi Yokoyama Yuka Kotozaki Seishu Nakagawa Atsushi Sekiguchi Kunio Iizuka Yuki Yamamoto Sugiko Hanawa Tsuyoshi Araki Carlos Makoto Miyauchi Takamitsu Shinada Kohei Sakaki Yuko Sassa Takayuki Nozawa Shigeyuki Ikeda Susumu Yokota Magistro Daniele Ryuta Kawashima 《Human brain mapping》2017,38(1):414-430
The importance of brain connectivity for creativity has been theoretically suggested and empirically demonstrated. Studies have shown sex differences in creativity measured by divergent thinking (CMDT) as well as sex differences in the structural correlates of CMDT. However, the relationships between regional white matter volume (rWMV) and CMDT and associated sex differences have never been directly investigated. In addition, structural studies have shown poor replicability and inaccuracy of multiple comparisons over the whole brain. To address these issues, we used the data from a large sample of healthy young adults (776 males and 560 females; mean age: 20.8 years, SD = 0.8). We investigated the relationship between CMDT and WMV using the newest version of voxel‐based morphometry (VBM). We corrected for multiple comparisons over whole brain using the permutation‐based method, which is known to be quite accurate and robust. Significant positive correlations between rWMV and CMDT scores were observed in widespread areas below the neocortex specifically in females. These associations with CMDT were not observed in analyses of fractional anisotropy using diffusion tensor imaging. Using rigorous methods, our findings further supported the importance of brain connectivity for creativity as well as its female‐specific association. Hum Brain Mapp 38:414–430, 2017. © 2016 Wiley Periodicals, Inc. 相似文献
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Mehmet Serdar Dervişoğulları Yüksel Totan Aylin Tenlik Aslıhan Yüce Emre Güler 《Cutaneous and ocular toxicology》2015,34(4):282-285
Purpose: The aim of this study is to show the effects of smoking on retina layers, especially retina nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer complex (GCIPL).Materials and methods: Participants smoking for more than 10 years at least 1 pack of cigarettes a day and a control group, both including participants between ages of 20 and 50 years with no other systemic or ocular diseases were studied. After normality tests, an independent sample t test was used to analyze the differences in age, sex, spherical equivalent (SE), intraocular pressure (IOP), axial length (AL), GCIPL and RNFL values between the groups.Results: There were 44 participants in each group. There were 32 (62.5%) men and 12(37.5%) women in smokers and 36 (77.88%) men and 8 (22.22%) women in control group. Mean ages were 39.85?±?8.41 and 38.66?±?10.47 years, mean spherical equivalent (SE) values were ?0.15?±?0.4 and 0?±?0.29 dioptries in smokers and control groups, respectively. The IOP, AXL, GCIPL and RNFL values were 17.58?±?3.41?mmHg, 23.69?±?0.56?mm, 84.3?±?5.83?μm and 92.3?±?3.51?μm in the smokers group and 18.5?±?2.91?mmHg, 23.45?±?0.72?mm, 86.11?±?8.02?μm and 97.66?±?8.23?μm in the control group. The inferior, superior, nasal and temporal values of RNFL quadrants were 123.18?±?26.14, 117.05?±?5.51, 64.95?±?8.67 and 63.5?±?6.88?μm in the smokers group and 130.81?±?11.8, 123.55?±?11.03, 72.44?±?9.84 and 58.44?±?7.48?μm in the control group. There were no significant difference of age, sex, SE, IOP, AXL and GCIPL values between the smokers and control groups (p?>?0.05). The mean RNFL was significantly thinner in the smokers group compared to controls (p?=?0.03, independent t test). Inferior and superior quadrants of RNFL decreased in smokers group (p?=?0.01 and p?=?0.03, respectively) but temporal and nasal quadrants did not seem to be changed (p?=?0.96 and p?=?0.07, respectively).Discussion: Smoking may affect RNFL thickness but not GCIPL. 相似文献
996.
《Journal of vascular and interventional radiology : JVIR》2022,33(5):558-563.e1
This study evaluated detectable nontarget embolization (NTE) during prostatic artery embolization (PAE) and the safety and efficacy of using radiopaque particles in PAE. Ten patients aged >40 years with prostate glands of >50 mL and refractory lower urinary tract symptoms were analyzed. Unenhanced computed tomography scans at baseline and at 3 months after PAE, using 40–90-μm radiopaque spherical embolic beads, were compared to assess the NTE. Growth models evaluated changes from baseline to 3, 6, and 12 months in International Prostate Symptom Score (IPSS), peak urine flow rate (Qmax), quality of life (QoL), International Index of Erectile Function (IIEF), and postvoid residual (PVR). The IPSS, QoL, and Qmax improved at all time points (P < .05), with no trend in PVR or IIEF. Adverse events that occurred were minor. Radiographic NTE was seen in all patients, correlating at times with postprocedural symptoms (eg, rectal pain). Symptoms were not correlated with the NTE in some patients, whereas other patients remained asymptomatic despite NTE. 相似文献
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998.
目的采用光学相干断层扫描技术(OCT)测得正常人、高眼压者和原发性开角型青光眼患者的视网膜神经纤维层(RNFL)的厚度并进行比较。方法选取门诊就诊的患者和正常志愿者,根据眼压、视野和视乳头形态分为正常组76名(152眼),高眼压组70例(109眼),原发性开角型青光眼组67例(112眼),采用OCTCIRRUSZeiss分别测得3组的平均RNFL和4个象限的RNFL。结果正常组平均RNFL为(107.61±8.03)μm,高眼压组平均RNFL为(105.26±9.22)μm,原发性开角型青光眼组平均RFNL为(91.00±10.55)μm。正常人平均、上方和下方RNFL与原发性开角型青光眼患者比较差异有统计学意义(P〈0.01);高眼压组与原发性开角型青光眼组之间平均RNFL比较差异有统计学意义(P〈0.01);正常组和高眼压组之间平均RNFL比较差异无统计学意义(P〉0.05)。结论通过对RNFL厚度的分析,为高眼压和原发性开角型青光眼的鉴别诊断提供帮助。 相似文献
999.
Meiso Hayashi MD Yoshinori Kobayashi MD Yu-ki Iwasaki MD Norishige Morita MD Yasushi Miyauchi MD Takao Kato MD Teruo Takano MD 《Heart rhythm》2006,3(8):908-918
BACKGROUND: Other than bundle branch reentry and interfascicular reentry, monomorphic postmyocardial infarction (post-MI) reentrant ventricular tachycardia (VT) including the His-Purkinje system has not been reported. Verapamil-sensitive idiopathic left VT includes the left posterior Purkinje fibers but develops in patients without structural heart disease. OBJECTIVES: The purpose of this study was to describe a novel mechanism of reentrant VT arising from the left posterior Purkinje fibers in patients with a prior MI. METHODS: The study consisted of four patients with a prior MI and symptomatic heart failure who underwent electrophysiologic study and catheter ablation for VT showing right bundle branch block (n = 3) or atypical left bundle branch block (n = 1) morphology with superior axis. In two patients, the VT frequently emerged during the acute phase of MI and required emergency catheter ablation. RESULTS: Clinical VT was reproducibly induced by programmed stimulation. In three patients, both diastolic and presystolic Purkinje potentials were sequentially recorded along the left ventricular posterior septum during the VT, whereas in the fourth patient, only presystolic Purkinje potentials were observed. During entrainment pacing from the right atrium, diastolic Purkinje potentials were captured orthodromically and demonstrated decremental conduction properties, whereas presystolic Purkinje potentials were captured antidromically and appeared between the His and QRS complex. Radiofrequency energy delivered at the site exhibiting a Purkinje-QRS interval of 58 +/- 26 ms successfully eliminated the VTs without provoking any conduction disturbances. CONCLUSION: Reentrant monomorphic VT originating from the left posterior Purkinje fibers, which is analogous to idiopathic left VT, can develop in the acute or chronic phase of MI. Catheter ablation is highly effective in eliminating this VT without affecting left ventricular conduction. 相似文献
1000.